Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ESR1_chr6_151802682_152108274	151958973	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 NA18612.hp2 others(4): Show HG00609.hp2 HG00621.hp2 NA18612.hp2 NA18963.hp2 NA18995.hp2 NA19000.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0004t0001 a0001c0008t0002	a0001c0001t0001g0044 a0001c0001t0002g0117 a0001c0001t0003g0092 others(4): Show a0001c0001t0001g0044 a0001c0001t0002g0117 a0001c0001t0003g0092 a0001c0001t0005g0032 a0001c0001t0005g0086 a0001c0004t0001g0120 a0001c0008t0002g0108	7	250	0.0280	24	c.109 others(45): Show c.1096+14486_1096+14487insTGTGTGTGTGTGTGTGTGTGTGTG	ESR1	ENSG00000091831.25	transcript	ENST00000206249.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
ESRP1_chr8_94636174_94712466	94636525	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG03540.hp2 HG01433.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0367 a0001c0001t0001g0245 a0001c0001t0001g0367	2	374	0.0054	24	c.-47 others(35): Show c.-4794_-4793insTTTTTTTTTTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding		4648		chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGGGTG others(17): Show GGGGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0354 a0001c0003t0001g0354	1	374	0.0027	24	c.932 others(39): Show c.932-880_932-879insGGGGTGTGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02451.hp2 HG03041.hp1 HG01070.hp2 HG02451.hp2 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351 a0001c0003t0001g0349 a0001c0003t0001g0350 a0001c0003t0001g0351	3	374	0.0080	24	c.932 others(39): Show c.932-880_932-879insGGTGTGTGTGTGTGTGTGTGTGTG	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94667068	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp2 NA18522.hp2 HG03209.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0363 a0001c0007t0001g0344 a0001c0007t0001g0346 a0001c0001t0001g0363 a0001c0007t0001g0344 a0001c0007t0001g0346	3	374	0.0080	24	c.932 others(39): Show c.932-878_932-855dupGTGTGTGTGTGTGTGTGTGTGTGT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76485626	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0135 a0001c0001t0010g0135	1	318	0.0031	24	c.850 others(41): Show c.850+2878_850+2901dupGAGAGAGAGAGAGAGAGAGAGAGA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76485663	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	318	0.0031	24	c.850 others(41): Show c.850+2905_850+2906insGAGAGAGAGAGAGAGAGAGAGAAA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489445	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00621.hp2 others(8): Show HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG02074.hp1 HG02486.hp2 HG02965.hp2 HG03041.hp1 NA18989.hp2 NA19003.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0015 a0001c0001 a0001c0002 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0026 a0001c0001t0032 a0001c0002t0007 a0004c0015t0004	a0001c0001t0001g0155 a0001c0001t0002g0029 a0001c0001t0002g0031 others(8): Show a0001c0001t0001g0155 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0265 a0001c0001t0002g0301 a0001c0001t0002g0309 a0001c0001t0003g0026 a0001c0001t0026g0215 a0001c0001t0032g0273 a0001c0002t0007g0316 a0004c0015t0004g0295	11	318	0.0346	24	c.851 others(41): Show c.851-1990_851-1967dupACACACACACACACACACACACAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216511547	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG00738.hp2 others(16): Show HG00140.hp2 HG00738.hp1 HG00738.hp2 HG01981.hp1 HG02083.hp2 HG02523.hp2 HG03492.hp1 NA18959.hp2 NA18960.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18988.hp2 NA19000.hp1 NA19001.hp2 NA19058.hp1 NA19084.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0055 a0001c0002t0002g0065 others(16): Show a0001c0002t0002g0012 a0001c0002t0002g0055 a0001c0002t0002g0065 a0001c0002t0002g0115 a0001c0002t0002g0139 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0153 a0001c0002t0002g0157 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0198 a0001c0002t0002g0207 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0275	19	286	0.0664	24	c.113 others(43): Show c.1133-4365_1133-4364insTGTGTGTGTGTGTGTGTGTGTGTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516636	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	286	0.0035	24	c.113 others(43): Show c.1132+2492_1132+2515dupGTGTGTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216516668	C C	CACACACA others(17): Show CACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp1 HG01167.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	286	0.0070	24	c.113 others(43): Show c.1132+2483_1132+2484insCTGTGTGTGTGTGTGTGTGTGTGT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	6/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569111	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG01109.hp1 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0009t0002 a0001c0002t0004 a0001c0009t0002	a0001c0002t0004g0270 a0001c0009t0002g0003 a0001c0002t0004g0270 a0001c0009t0002g0003	2	286	0.0070	24	c.590 others(41): Show c.590-1014_590-1013insCTTCCTTCTTCCTTCCTTCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569111	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02922.hp1 HG03688.hp2 others(4): Show HG02004.hp2 HG02922.hp1 HG03688.hp2 NA18522.hp1 NA18942.hp1 NA18988.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0075 a0001c0001t0001g0158 a0001c0001t0005g0022 others(4): Show a0001c0001t0001g0075 a0001c0001t0001g0158 a0001c0001t0005g0022 a0001c0001t0005g0043 a0001c0001t0016g0001 a0001c0002t0002g0065 a0001c0002t0002g0169	7	286	0.0245	24	c.590 others(41): Show c.590-1014_590-1013insCTTCTTCCTTCCTTCCTTCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216682709	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01993.hp1 HG02004.hp1 others(2): Show HG01358.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0239 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0239 a0001c0001t0003g0189 a0001c0001t0003g0238	5	286	0.0175	24	c.57- others(39): Show c.57-5242_57-5219dupACACACACACACACACACACACAC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216689822	G G	GCAACACT others(17): Show GCAACACTCTTAATATTTTCATTAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG01106.hp1 HG02896.hp1 HG02897.hp1 HG03195.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0005 a0001c0006t0010 a0001c0006t0023 others(1): Show a0001c0006t0005 a0001c0006t0010 a0001c0006t0023 a0001c0007t0002	a0001c0006t0005g0092 a0001c0006t0010g0008 a0001c0006t0023g0010 others(3): Show a0001c0006t0005g0092 a0001c0006t0010g0008 a0001c0006t0023g0010 a0001c0007t0002g0009 a0001c0007t0002g0011 a0001c0007t0002g0179	6	286	0.0210	24	c.57- others(41): Show c.57-12332_57-12331insATAATGAAAATATTAAGAGTGTTG	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	1/6			chr1	TogoVar
ESX1_chrX_104245038_104259933	104256122	T T	TTAAAAGT others(17): Show TTAAAAGTCCTGGGCTATGATTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0035 a0035	a0035c0038 a0035c0038	a0035c0038t0001 a0035c0038t0001	a0035c0038t0001g0077 a0035c0038t0001g0077	1	313	0.0032	24	c.-12 others(35): Show c.-1274_-1273insTTCAATCATAGCCCAGGACTTTTA	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding		1190		chrX	TogoVar
ESYT2_chr7_158725997_158834509	158806058	C C	CGGCGCCG others(17): Show CGGCGCCGGGGCACACCGCGTGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00735.hp1 others(60): Show HG00408.hp1 HG00558.hp1 HG00735.hp1 HG01069.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01981.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18943.hp2 NA18947.hp2 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18975.hp1 NA18977.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19087.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0002c0027 a0003c0003 others(4): Show a0001c0001 a0002c0027 a0003c0003 a0003c0017 a0004c0005 a0004c0018 a0008c0015	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0025 a0002c0027t0044 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0003t0026 a0003c0017t0002 a0004c0005t0001 a0004c0018t0001 a0008c0015t0004	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 others(60): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0008g0145 a0001c0001t0008g0162 a0001c0001t0008g0165 a0001c0001t0009g0152 a0001c0001t0009g0161 a0001c0001t0020g0150 a0001c0001t0025g0185 a0002c0027t0044g0194 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0338 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0004g0347 a0003c0003t0005g0359 a0003c0003t0007g0325 a0003c0003t0007g0327 a0003c0003t0007g0329 a0003c0003t0007g0337 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0003t0026g0358 a0003c0017t0002g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0004c0005t0001g0348 a0004c0005t0001g0350 a0004c0005t0001g0351 a0004c0005t0001g0352 a0004c0005t0001g0353 a0004c0005t0001g0354 a0004c0005t0001g0355 a0004c0005t0001g0356 a0004c0005t0001g0357 a0004c0005t0001g0362 a0004c0005t0001g0363 a0004c0005t0001g0364 a0004c0018t0001g0349 a0008c0015t0004g0342	63	370	0.1703	24	c.331 others(41): Show c.331-7010_331-6987dupTCCCACGCGGTGTGCCCCGGCGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158806122	C C	CGTGTGGG others(17): Show CGTGTGGGAGGCGCTGGCGCACAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0006 a0001c0007 others(5): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0024 a0002c0002 a0005c0012 a0007c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0006t0001 a0001c0006t0009 a0001c0006t0011 a0001c0007t0001 a0001c0007t0036 a0001c0011t0001 a0001c0024t0001 a0002c0002t0042 a0005c0012t0001 a0007c0025t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(149): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0013g0114 a0001c0001t0013g0134 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193 a0001c0001t0024g0112 a0001c0001t0027g0064 a0001c0001t0028g0095 a0001c0001t0029g0094 a0001c0001t0031g0019 a0001c0001t0043g0129 a0001c0006t0001g0138 a0001c0006t0009g0190 a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0036g0032 a0001c0011t0001g0102 a0001c0011t0001g0139 a0001c0011t0001g0140 a0001c0024t0001g0326 a0002c0002t0042g0027 a0005c0012t0001g0005 a0005c0012t0001g0006 a0007c0025t0001g0041	154	370	0.4162	24	c.331 others(41): Show c.331-7051_331-7050insATTGTGCGCCAGCGCCTCCCACAC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158806127	G G	GGGAGGCG others(17): Show GGGAGGCGCTGGCGCACAATGCGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp1 HG02922.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0015 a0001c0014t0015	a0001c0014t0015g0173 a0001c0014t0015g0174 a0001c0014t0015g0173 a0001c0014t0015g0174	2	370	0.0054	24	c.331 others(41): Show c.331-7056_331-7055insTACGCATTGTGCGCCAGCGCCTCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	334	0.0030	24	c.70 others(35): Show c.7082_*7083insTTTTTTTTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	334	0.0030	24	c.732 others(39): Show c.732+538_732+539insATATATATTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19089.hp1 HG02896.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0167 a0001c0001t0001g0049 a0001c0001t0001g0167	2	334	0.0060	24	c.732 others(39): Show c.732+538_732+539insATATATATATATATATATATTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76272813	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0241 others(1): Show a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0244	4	336	0.0119	24	c.816 others(41): Show c.816+1598_816+1599insATATATATATATATATATATATAT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	9/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76295936	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp1 HG01884.hp2 others(3): Show HG01074.hp1 HG01256.hp1 HG01884.hp2 HG02976.hp1 HG03942.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0138 a0001c0001t0002g0174 a0001c0001t0002g0187 others(3): Show a0001c0001t0002g0138 a0001c0001t0002g0174 a0001c0001t0002g0187 a0001c0001t0002g0224 a0001c0001t0003g0275 a0001c0001t0008g0173	6	336	0.0179	24	c.40- others(37): Show c.40-200_40-199insAAAAAAAAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETFA_chr15_76210353_76316469	76310068	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02717.hp2 HG03704.hp1 HG02602.hp1 HG02717.hp2 HG03704.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0004 a0001c0001t0002 a0002c0002t0004	a0001c0001t0002g0207 a0001c0001t0002g0208 a0002c0002t0004g0254 a0001c0001t0002g0207 a0001c0001t0002g0208 a0002c0002t0004g0254	3	336	0.0089	24	c.39+ others(39): Show c.39+1258_39+1281dupTTTTTTTTTTTTTTTTTTTTTTTT	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	1/11			chr15	TogoVar
ETNPPL_chr4_108737053_108768053	108741276	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0301 a0002c0002t0001g0301	1	378	0.0027	24	c.12 others(35): Show c.1207_*1208insCACACACACACACACACACACACA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		776		chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108741303	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	378	0.0027	24	c.11 others(35): Show c.1180_*1181insGCGCACACACACACACACACACAC	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		749		chr4	TogoVar
ETNPPL_chr4_108737053_108768053	108753749	T T	TAAGAAAG others(17): Show TAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01256.hp1 others(13): Show HG00741.hp2 HG01074.hp1 HG01256.hp1 HG01891.hp1 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp2 HG02135.hp1 HG02735.hp2 HG02895.hp1 HG03225.hp2 NA18957.hp1 NA19000.hp2 NA19011.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0001g0175 a0001c0001t0001g0182 others(12): Show a0001c0001t0001g0021 a0001c0001t0001g0175 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0324 a0001c0001t0003g0243	16	378	0.0423	24	c.502 others(39): Show c.502-762_502-739dupTCTTTCTTTCTTTCTTTCTTTCTT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	5/12			chr4	TogoVar
ETV1_chr7_13886229_13994666	13896743	G G	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01978.hp1 HG03669.hp2 others(1): Show HG01192.hp2 HG01978.hp1 HG03669.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0024 a0001c0001t0004 a0001c0001t0006 a0001c0001t0024	a0001c0001t0004g0249 a0001c0001t0006g0088 a0001c0001t0006g0280 others(1): Show a0001c0001t0004g0249 a0001c0001t0006g0088 a0001c0001t0006g0280 a0001c0001t0024g0029	4	320	0.0125	24	c.121 others(41): Show c.1213-680_1213-657dupTTTCTTTCTTTCTTTCTTTCTTTC	ETV1	ENSG00000006468.15	transcript	ENST00000430479.6	protein_coding	13/13			chr7	TogoVar
ETV2_chr19_35636745_35649871	35638908	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01361.hp2 HG01192.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	438	0.0046	24	c.-32 others(35): Show c.-3276_-3275insAAAAAAAAAAAAAAAAAAAAAAAA	ETV2	ENSG00000105672.15	transcript	ENST00000402764.6	protein_coding		2836		chr19	TogoVar
ETV4_chr17_43522846_43551340	43543276	A A	ACTCTCCC others(17): Show ACTCTCCCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp2 NA18995.hp1 HG01361.hp2 HG02698.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0090 a0001c0001t0002g0031 a0001c0001t0002g0090	3	398	0.0075	24	c.202 others(41): Show c.202+1698_202+1699insAGAGAGAGAGAGAGAGAGGGAGAG	ETV4	ENSG00000175832.13	transcript	ENST00000319349.10	protein_coding	4/12			chr17	TogoVar
ETV4_chr17_43522846_43551340	43543296	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	398	0.0025	24	c.202 others(41): Show c.202+1678_202+1679insTGAGAGAGAGAGAGAGAGAGAGAG	ETV4	ENSG00000175832.13	transcript	ENST00000319349.10	protein_coding	4/12			chr17	TogoVar
ETV6_chr12_11644674_11900377	11669373	T T	TCCTCCCT others(17): Show TCCTCCCTCCCTCCATCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01496.hp1 others(14): Show HG00639.hp1 HG01074.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01981.hp1 HG02273.hp2 HG02293.hp2 HG02970.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 NA18948.hp2 NA19007.hp2 NA19091.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0033 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0064 a0001c0001t0097 a0001c0001t0126 a0001c0002t0008 a0001c0002t0114 a0001c0004t0066	a0001c0001t0001g0018 a0001c0001t0003g0015 a0001c0001t0003g0021 others(14): Show a0001c0001t0001g0018 a0001c0001t0003g0015 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0006g0016 a0001c0001t0009g0013 a0001c0001t0033g0027 a0001c0001t0033g0028 a0001c0001t0040g0023 a0001c0001t0042g0014 a0001c0001t0044g0020 a0001c0001t0064g0157 a0001c0001t0097g0066 a0001c0001t0126g0019 a0001c0002t0008g0193 a0001c0002t0114g0136 a0001c0004t0066g0052	17	262	0.0649	24	c.33+ others(41): Show c.33+19226_33+19227insATCCCTCCCTCCCTCCCTCCCTCC	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11690886	C C	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG00673.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0034 a0001c0001t0003 a0001c0001t0006 a0001c0002t0034	a0001c0001t0003g0185 a0001c0001t0006g0037 a0001c0002t0034g0222 others(1): Show a0001c0001t0003g0185 a0001c0001t0006g0037 a0001c0002t0034g0222 a0001c0002t0034g0224	4	262	0.0153	24	c.33+ others(41): Show c.33+40727_33+40750dupTAAATAAATAAATAAATAAATAAA	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
ETV6_chr12_11644674_11900377	11784862	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0150 a0001c0001t0012g0150	1	262	0.0038	24	c.163 others(43): Show c.163+32284_163+32307dupTTTTTTTTTTTTTTTTTTTTTTTT	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EVA1A_chr2_75487318_75565939	75555301	A A	ATCTCTCT others(17): Show ATCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02965.hp2 NA19068.hp2 HG00544.hp1 HG02965.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0002t0007g0154 a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0002t0007g0154	3	384	0.0078	24	c.-19 others(43): Show c.-192+5355_-192+5378dupGAGAGAGAGAGAGAGAGAGAGAGA	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0358 a0002c0003t0032g0358	1	384	0.0026	24	c.-19 others(43): Show c.-192+5343_-192+5344insGGGGAGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1A_chr2_75487318_75565939	75555336	T T	TCTCTCTC others(17): Show TCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG01361.hp2 others(7): Show HG00639.hp2 HG01123.hp1 HG01361.hp2 NA18946.hp2 NA18959.hp2 NA18992.hp2 NA19004.hp1 NA19007.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0009 a0001c0001t0002 a0001c0001t0004 a0001c0002t0009	a0001c0001t0002g0279 a0001c0001t0002g0321 a0001c0001t0002g0322 others(7): Show a0001c0001t0002g0279 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0002t0009g0326	10	384	0.0260	24	c.-19 others(43): Show c.-192+5343_-192+5344insGGAGAGAGAGAGAGAGAGAGAGAG	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	1/3			chr2	TogoVar
EVA1C_chr21_32407706_32520387	32421167	G G	GAGTGGTT others(17): Show GAGTGGTTAAATATAAAGAATATCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(160): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18962.hp2 NA18965.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0023 a0002c0008 a0002c0022 a0004c0016 a0005c0025 a0007c0018	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001 a0001c0013t0001 a0001c0023t0001 a0002c0008t0002 a0002c0008t0005 a0002c0022t0002 a0004c0016t0001 a0005c0025t0001 a0007c0018t0004	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0049 others(160): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0336 a0001c0001t0001g0341 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0105 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0229 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0255 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0263 a0001c0002t0001g0273 a0001c0002t0001g0291 a0001c0002t0001g0302 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0324 a0001c0002t0001g0327 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0002g0258 a0001c0002t0002g0267 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0276 a0001c0002t0002g0322 a0001c0002t0003g0115 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0272 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0298 a0001c0006t0001g0076 a0001c0006t0001g0077 a0001c0007t0001g0264 a0001c0007t0001g0265 a0001c0007t0001g0266 a0001c0007t0001g0270 a0001c0007t0001g0274 a0001c0009t0001g0227 a0001c0009t0001g0230 a0001c0010t0001g0228 a0001c0010t0001g0250 a0001c0010t0001g0251 a0001c0013t0001g0100 a0001c0013t0001g0104 a0001c0013t0001g0150 a0001c0023t0001g0110 a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 a0002c0008t0002g0257 a0002c0008t0005g0116 a0002c0022t0002g0103 a0004c0016t0001g0313 a0005c0025t0001g0333 a0007c0018t0004g0106	163	346	0.4711	24	c.160 others(41): Show c.160+8156_160+8157insTGGTTAAATATAAAGAATATCCAG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477743	C C	ACCTCCCC others(17): Show ACCTCCCCCGTACGCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03834.hp2 HG01978.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0340 a0001c0003t0001g0272 a0001c0002t0001g0340 a0001c0003t0001g0272	2	346	0.0058	24	c.634 others(41): Show c.634+9871_634+9894dupACCTCCCCCGTACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EVA1C_chr21_32407706_32520387	32503549	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG02071.hp1 others(19): Show HG00639.hp1 HG01106.hp2 HG02071.hp1 HG02083.hp1 HG02451.hp2 HG02486.hp2 HG02965.hp2 HG03098.hp1 HG03209.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18981.hp1 NA18982.hp2 NA19030.hp1 NA19062.hp1 NA19062.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001 a0001c0009t0001 a0001c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0049 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0049 a0001c0001t0001g0252 a0001c0002t0001g0005 a0001c0002t0001g0120 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0276 a0001c0002t0003g0115 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0004t0001g0027 a0001c0004t0001g0046 a0001c0007t0001g0266 a0001c0009t0001g0227 a0001c0009t0001g0230 a0001c0010t0001g0147 a0001c0010t0001g0228 a0001c0010t0001g0250 a0001c0010t0001g0251	22	346	0.0636	24	c.860 others(39): Show c.860-358_860-357insTAAATAAATAAATAAATAAATAAA	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32516114	T T	TTCCAATA others(17): Show TTCCAATAAAACGTTCTTTTTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	346	0.0029	24	c.92 others(33): Show c.924_*925insTCCAATAAAACGTTCTTTTTGGAC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding		728		chr21	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0073 a0004c0010t0002g0073	1	292	0.0034	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTCTATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0022 a0022	a0022c0063 a0022c0063	a0022c0063t0001 a0022c0063t0001	a0022c0063t0001g0130 a0022c0063t0001g0130	1	292	0.0034	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTCTCTCTCTCTATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG02132.hp1 HG01109.hp2 HG01192.hp1 HG02132.hp1	a0006 a0014 a0006 a0014	a0006c0004 a0014c0021 a0006c0004 a0014c0021	a0006c0004t0002 a0014c0021t0003 a0006c0004t0002 a0014c0021t0003	a0006c0004t0002g0080 a0006c0004t0002g0081 a0014c0021t0003g0017 a0006c0004t0002g0080 a0006c0004t0002g0081 a0014c0021t0003g0017	3	292	0.0103	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTCTCTCTCTATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA20905.hp2 NA18988.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0001 a0006c0004t0002 a0001c0001t0001 a0006c0004t0002	a0001c0001t0001g0074 a0006c0004t0002g0112 a0001c0001t0001g0074 a0006c0004t0002g0112	2	292	0.0069	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTCTCTCTATATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0089 a0001c0014t0001g0089	1	292	0.0034	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTCTCTATATATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC2_chr4_5557439_5713559	5650638	T T	TATATATA others(17): Show TATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0106 a0004c0005t0002g0106	1	292	0.0034	24	c.114 others(43): Show c.1146-9801_1146-9800insCTCTATATATATATATATATATAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	9/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706417	G G	GATAGATA others(17): Show GATAGATACATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG02293.hp2 HG01168.hp2 HG02293.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0001 a0001c0002t0003 a0002c0003t0001	a0001c0002t0003g0272 a0002c0003t0001g0273 a0001c0002t0003g0272 a0002c0003t0001g0273	2	369	0.0054	24	c.-49 others(35): Show c.-4964_-4963insATAGATACATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4783		chr4	TogoVar
EVI5_chr1_92503696_92790108	92669547	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG02055.hp1 others(3): Show HG00280.hp2 HG00544.hp1 HG02055.hp1 HG02622.hp1 NA18979.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0103 others(3): Show a0001c0001t0001g0077 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0150 a0001c0001t0003g0064 a0001c0001t0003g0070	6	168	0.0357	24	c.115 others(43): Show c.1159-3556_1159-3555insTTTTTTTTTTTTTTTTTTTTTTTT	EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	10/19			chr1	TogoVar

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